alexa Hla Typing in Epidermolysis Bullosa Patients: Relevancy to Gluten Sensitivity | OMICS International | Abstract
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Research Article

Hla Typing in Epidermolysis Bullosa Patients: Relevancy to Gluten Sensitivity

Annicchiarico G1*, Morgese MG2,3, Fiore T4, Mauro S5, Garofalo L6, Aceto G7, Tampoia M8, Bonamonte D6, Minelli M9 and Brunetti L7

1Regional Coordination for Rare Diseases- Ares Puglia, Via Caduti di tutte le Guerre 15, 70125 Bari, Italy

2Residency Program of Hospital Pharmacy, University of Bari “A. Moro”, Via Orabona 4, 70124, Bari, Italy

3Department of Experimental and Clinical Medicine, University of Foggia, Viale L. Pinto 1, 71122 Foggia, Italy

4Department of Anaesthesia and Intensive Care, University of Bari “A. Moro”, Piazza Giulio Cesare, 11, 70124 Bari, Italy

5Department of Genetics, Hospital of Lecce “Vito Fazzi”, P. F. Muratore - 73100 Lecce, Italy

6Department of Biomedical Science and Oncology-Section of Dermatology, University of Bari “A. Moro”, Piazza Giulio Cesare, 11, 70124 Bari, Italy

7Department of Paediatrics, Biomedicine of Developing Age, “B. Trambusti”, University of Bari “A. Moro”, Piazza Giulio Cesare, 11, 70124 Bari, Italy

8Department of Clinical Pathology, University of Bari “A. Moro”, Piazza Giulio Cesare, 11, 70124 Bari, Italy

9Outpatient Service of Clinical Immunology and Allergology, City of Lecce Hospital - GVM Care & Research, Via Prov. per Arnesano km 4, 73100 Lecce Italy

*Corresponding Author:
Dr. Giuseppina Annicchiarico
Regional coordination for rare diseases - Ares Puglia
Via Caduti di tutte le Guerre 15, 70125 Bari, Italy
Tel: 0039080 9188139
Fax: 0039080
E-mail: [email protected]

Received date: July 31, 2013; Accepted date:September 21, 2013; Published date: September 29, 2013

Citation: Annicchiarico G, Morgese MG, Fiore T, Mauro S, Garofalo L, et al. (2013) Hla Typing in Epidermolysis Bullosa Patients: Relevancy to Gluten Sensitivity. J Genet Syndr Gene Ther 4:182. doi:10.4172/2157-7412.1000182

Copyright: © 2013 Annicchiarico G, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Background: Epidermolysis bullosa (EB) is an inherited genetic disease affecting skin adhesion at dermal or epidermal level or in the basement membrane zone. EB is present in three major forms: simplex, junctional and dystrophic. This latter is very often associated to non-cutaneous manifestation such as gastrointestinal complication and renal damage. Aim of this study was to classify EB patients based on an assigned severity score and individuate precipitating factor, such as HLA predisposing to gluten sensitivity, responsible of the different course of the extracutaneous manifestation of the pathology. Methods: By using a cross sectional design, 36 EB patients were screened based on the Birmingham severity score and HLA typing was performed in order to discover possible associations. HLA typing test was performed by PCR and statistical method of analysis was the χ2 test. Controls (n=341) were healthy volunteer subjects. Results: From a total of 36 patients, 24 were diagnosed of the more sever form of EB, the dystrophic one. The assigned scores ranged from 11 to 90, while the 12 simplex patients received a score from 0-2. In regard to HLA typing, we found that in EB patients the 21.62% expressed a DQ2.2 HLA, while controls only 5.87% (P<0.0005 χ2 test). No statistically significant difference was found among the other aplotypes. Conclusion: Although, no difference was found in regard to HLA-DQ2.5, the strongest aplotype associated to celiac disease, we found that in EB patient there was a higher incidence of HLA-DQ2.2 that in a condition of chronic intestinal inflammation, as in these patients is likely to be, may predispose to sensitivity to gluten ultimately leading to immune mediated-organ damage.


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